Submissions for variant NM_017755.6(NSUN2):c.1020del (p.Gly341fs)

dbSNP: rs1579368865

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centogene AG - the Rare Disease Company	RCV001027963	SCV001426518	pathogenic	Intellectual disability, autosomal recessive 5		criteria provided, single submitter	clinical testing
GeneDx	RCV002221600	SCV002498870	pathogenic	not provided	2022-04-07	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Functional studies demonstrate an approximate 43% reduction in mRNA level compared to controls and suggest the mutant transcript results in an abnormal protein product that may partially escape nonsense-mediated decay (Komara et al., 2015); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26055038, 30724636, 32860008, 24102521)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV004798882	SCV005420756	pathogenic	Intellectual disability	2024-10-04	criteria provided, single submitter	research	PVS1,PS3,PM2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001027963	SCV001190710	pathogenic	Intellectual disability, autosomal recessive 5	2020-02-05	no assertion criteria provided	clinical testing